Allele Registry

Canonical Allele Identifier: PA2827785347

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000255810

RCV000546041

RCV000781835

RCV002247477

RCV002274894

RCV003992180

RCV004537326

ClinVar Variation:

93639

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg831His	CA266833 NM_001353958.2:c.2492G>A